publication . Article . Other literature type . 2017

PGBD5 promotes site-specific oncogenic mutations in human tumors

Scott A. Armstrong; Scott A. Armstrong; Eric Still; Richard Koche; Alex Kentsis; Alex Kentsis; Anton G. Henssen; Anton G. Henssen; Elias Rodriguez-Fos; Ian C. MacArthur; ...
Open Access
  • Published: 15 May 2017
  • Country: United Kingdom
Abstract
Genomic rearrangements are a hallmark of human cancers. Here, we identify the piggyBac transposable element derived 5 (PGBD5) gene as encoding an active DNA transposase expressed in the majority of childhood solid tumors, including lethal rhabdoid tumors. Using assembly-based whole-genome DNA sequencing, we found previously undefined genomic rearrangements in human rhabdoid tumors. These rearrangements involved PGBD5-specific signal (PSS) sequences at their breakpoints and recurrently inactivated tumor-suppressor genes. PGBD5 was physically associated with genomic PSS sequences that were also sufficient to mediate PGBD5-induced DNA rearrangements in rhabdoid tum...
Subjects
free text keywords: embryonal neoplasms, mutagenesis, Article, Genetics, Gene, DNA repair, Transposase, Gene rearrangement, Cancer research, Chromosome Breakpoints, Transposable element, DNA, chemistry.chemical_compound, chemistry, Biology, DNA sequencing
Funded by
WT
Project
  • Funder: Wellcome Trust (WT)
,
NIH| MOUSE GENETICS
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 2P30CA008748-43
  • Funding stream: NATIONAL CANCER INSTITUTE
,
NIH| Administrative Core
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5P50CA140146-04
  • Funding stream: NATIONAL CANCER INSTITUTE
,
NIH| Clinical and Translational Science Center
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 3UL1TR000457-08S1
  • Funding stream: NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES
,
NIH| MSKCC Pilot Center for Precision Disease Modeling
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5U54OD020355-04
  • Funding stream: OFFICE OF THE DIRECTOR, NATIONAL INSTITUTES OF HEALTH
74 references, page 1 of 5

Vogelstein, B. Cancer genome landscapes. Science. 2013; 339: 1546-1558 [OpenAIRE] [PubMed] [DOI]

Alexandrov, LB. Signatures of mutational processes in human cancer. Nature. 2013; 500: 415-421 [OpenAIRE] [PubMed] [DOI]

The Cancer Genome Atlas Pan-Cancer analysis project. Nature genetics. 2013; 45: 1113-1120 [OpenAIRE] [PubMed] [DOI]

Futreal, PA. A census of human cancer genes. Nature reviews Cancer. 2004; 4: 177-183 [OpenAIRE] [PubMed] [DOI]

Huether, R. The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. Nature communications. 2014; 5: 3630 [OpenAIRE] [DOI]

Northcott, PA. Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma. Nature. 2014; 511: 428-434 [OpenAIRE] [PubMed] [DOI]

Mansour, MR. An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element. Science. 2014 [OpenAIRE] [DOI]

Molenaar, JJ. Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature. 2012; 483: 589-593 [OpenAIRE] [PubMed] [DOI]

Johann, PD. Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes. Cancer cell. 2016; 29: 379-393 [OpenAIRE] [PubMed] [DOI]

Chun, HJ. Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways. Cancer cell. 2016; 29: 394-406 [OpenAIRE] [PubMed] [DOI]

Jones, DT. Dissecting the genomic complexity underlying medulloblastoma. Nature. 2012; 488: 100-105 [OpenAIRE] [PubMed] [DOI]

Fischer, HP, Thomsen, H, Altmannsberger, M, Bertram, U. Malignant rhabdoid tumour of the kidney expressing neurofilament proteins. Immunohistochemical findings and histogenetic aspects. Pathology, research and practice. 1989; 184: 541-547 [DOI]

Lee, RS. A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. The Journal of clinical investigation. 2012

van den Heuvel-Eibrink, MM. Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group. Pediatr Blood Cancer. 2011; 56: 733-737 [OpenAIRE] [PubMed] [DOI]

Versteege, I. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature. 1998; 394: 203-206 [OpenAIRE] [PubMed] [DOI]

74 references, page 1 of 5
Abstract
Genomic rearrangements are a hallmark of human cancers. Here, we identify the piggyBac transposable element derived 5 (PGBD5) gene as encoding an active DNA transposase expressed in the majority of childhood solid tumors, including lethal rhabdoid tumors. Using assembly-based whole-genome DNA sequencing, we found previously undefined genomic rearrangements in human rhabdoid tumors. These rearrangements involved PGBD5-specific signal (PSS) sequences at their breakpoints and recurrently inactivated tumor-suppressor genes. PGBD5 was physically associated with genomic PSS sequences that were also sufficient to mediate PGBD5-induced DNA rearrangements in rhabdoid tum...
Subjects
free text keywords: embryonal neoplasms, mutagenesis, Article, Genetics, Gene, DNA repair, Transposase, Gene rearrangement, Cancer research, Chromosome Breakpoints, Transposable element, DNA, chemistry.chemical_compound, chemistry, Biology, DNA sequencing
Funded by
WT
Project
  • Funder: Wellcome Trust (WT)
,
NIH| MOUSE GENETICS
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 2P30CA008748-43
  • Funding stream: NATIONAL CANCER INSTITUTE
,
NIH| Administrative Core
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5P50CA140146-04
  • Funding stream: NATIONAL CANCER INSTITUTE
,
NIH| Clinical and Translational Science Center
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 3UL1TR000457-08S1
  • Funding stream: NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES
,
NIH| MSKCC Pilot Center for Precision Disease Modeling
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5U54OD020355-04
  • Funding stream: OFFICE OF THE DIRECTOR, NATIONAL INSTITUTES OF HEALTH
74 references, page 1 of 5

Vogelstein, B. Cancer genome landscapes. Science. 2013; 339: 1546-1558 [OpenAIRE] [PubMed] [DOI]

Alexandrov, LB. Signatures of mutational processes in human cancer. Nature. 2013; 500: 415-421 [OpenAIRE] [PubMed] [DOI]

The Cancer Genome Atlas Pan-Cancer analysis project. Nature genetics. 2013; 45: 1113-1120 [OpenAIRE] [PubMed] [DOI]

Futreal, PA. A census of human cancer genes. Nature reviews Cancer. 2004; 4: 177-183 [OpenAIRE] [PubMed] [DOI]

Huether, R. The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. Nature communications. 2014; 5: 3630 [OpenAIRE] [DOI]

Northcott, PA. Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma. Nature. 2014; 511: 428-434 [OpenAIRE] [PubMed] [DOI]

Mansour, MR. An oncogenic super-enhancer formed through somatic mutation of a noncoding intergenic element. Science. 2014 [OpenAIRE] [DOI]

Molenaar, JJ. Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature. 2012; 483: 589-593 [OpenAIRE] [PubMed] [DOI]

Johann, PD. Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes. Cancer cell. 2016; 29: 379-393 [OpenAIRE] [PubMed] [DOI]

Chun, HJ. Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways. Cancer cell. 2016; 29: 394-406 [OpenAIRE] [PubMed] [DOI]

Jones, DT. Dissecting the genomic complexity underlying medulloblastoma. Nature. 2012; 488: 100-105 [OpenAIRE] [PubMed] [DOI]

Fischer, HP, Thomsen, H, Altmannsberger, M, Bertram, U. Malignant rhabdoid tumour of the kidney expressing neurofilament proteins. Immunohistochemical findings and histogenetic aspects. Pathology, research and practice. 1989; 184: 541-547 [DOI]

Lee, RS. A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. The Journal of clinical investigation. 2012

van den Heuvel-Eibrink, MM. Malignant rhabdoid tumours of the kidney (MRTKs), registered on recent SIOP protocols from 1993 to 2005: a report of the SIOP renal tumour study group. Pediatr Blood Cancer. 2011; 56: 733-737 [OpenAIRE] [PubMed] [DOI]

Versteege, I. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature. 1998; 394: 203-206 [OpenAIRE] [PubMed] [DOI]

74 references, page 1 of 5
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